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| |    Neural Tube Defects: Diagnosis, Treatment, and Prevention by Lynn Cates, M.D., F.A.A.P. reviewed by Laura Jana, M.D., F.A.A.P. There has been a lot of information in the news about the importance of preventing one of the most common and serious kinds of congenital abnormalities in the United States, neural tube defects (NTDs). Up to 70 percent of NTDs can be prevented if women who might become pregnant take folic acid supplements. Unfortunately, even with this simple means of prevention at our disposal, about 1,500 to 2000 babies with NTDs are born in the United States each year. For these children to develop to their full potential, it is important that the diagnosis be made promptly, and that they be treated aggressively and appropriately. How are neural tube defects diagnosed? During pregnancy, fetuses with NTDs release increased amounts of substances such as alpha-feto-protein (AFP) into the amniotic fluid. AFP is one of the components measured in the mother's serum during a triple check test, or triple screen, which is often done routinely these days (be sure to check with your doctor if you are concerned). An elevated maternal AFP after 16 weeks gestation suggests an increased risk of a NTD. It is important to know, however, that the triple check is only a screening test. If it is positive, other tests such as a detailed ultrasound of the baby's spine or amniocentesis (to measure AFP in amniotic fluid) should be performed to determine if the fetus actually has a NTD. After a baby is born, the two most severe types of NTDs, anencephaly and encephalocele, are easily identified on physical exam--if the baby has the former, she will have a very small head; if she has the latter, her brain will protrude through a hole in the skull. Babies with spina bifida, however, often appear relatively normal. Some may only have a mass, a tuft of hair, or a skin discoloration over the spine, or be found to have abnormal use of the lower limbs. The full extent of the NTD is determined by spine x-rays and either computerized tomographic (CT) scans or magnetic resonance imaging (MRI). Treatment of neural tube defects Occasionally, surgery has been successful in babies with encephalocele. However, almost all babies with NTDs who survive the newborn period have spina bifida, and its treatment depends on its severity. Spina bifida occulta (in which the spinal cord doesn't protrude out of the spine) often causes no symptoms at all, and usually requires no treatment. When the spinal cord does protrude through a defect in the bony spine, the treatment requires a coordinated approach involving both a primary caregiver such as a pediatrician or family physician, and a team of health professionals such as neurosurgeons, orthopedic surgeons, physical therapists, social workers, and urologists. Generally, surgery is required soon after birth--often within the first 24 to 48 hours--to protect the exposed spinal cord, help preserve whatever nerve function the baby has, and to help prevent infection of the exposed nerves and other tissues. What can you do to help prevent neural tube defects? About half of all neural tube defects (up to 70 percent) could be prevented if women of childbearing age took folic acid before becoming pregnant and during the first few weeks of pregnancy. Since neural tube development is completed by the end of the fourth week of pregnancy, starting folic acid after a woman learns she is pregnant is often too late. Resources Other sources of information about neural tube defects include: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 1-888-MODIMES (663-4637) www.modimes.org The Spina Bifida Association of America 4590 MacArthur Boulevard, NW Suite 250 Washington, DC 20007-4226 1-800-621-3141 1-202-944-3285 www.sbaa.org
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